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NM_000093.5(COL5A1):c.5204G>A (p.Ser1735Asn) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Mar 10, 2023
Review status:
criteria provided, conflicting classifications
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001759582.22

Allele description [Variation Report for NM_000093.5(COL5A1):c.5204G>A (p.Ser1735Asn)]

NM_000093.5(COL5A1):c.5204G>A (p.Ser1735Asn)

Genes:
COL5A1:collagen type V alpha 1 chain [Gene - OMIM - HGNC]
LOC101448202:uncharacterized LOC101448202 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.3
Genomic location:
Preferred name:
NM_000093.5(COL5A1):c.5204G>A (p.Ser1735Asn)
HGVS:
  • NC_000009.12:g.134835038G>A
  • NG_008030.1:g.198233G>A
  • NM_000093.5:c.5204G>AMANE SELECT
  • NM_001278074.1:c.5204G>A
  • NP_000084.3:p.Ser1735Asn
  • NP_000084.3:p.Ser1735Asn
  • NP_001265003.1:p.Ser1735Asn
  • LRG_737t1:c.5204G>A
  • LRG_737t2:c.5204G>A
  • LRG_737:g.198233G>A
  • LRG_737p1:p.Ser1735Asn
  • LRG_737p2:p.Ser1735Asn
  • NC_000009.11:g.137726884G>A
  • NM_000093.3:c.5204G>A
  • NM_000093.4:c.5204G>A
Protein change:
S1735N
Links:
dbSNP: rs1588615451
NCBI 1000 Genomes Browser:
rs1588615451
Molecular consequence:
  • NM_000093.5:c.5204G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278074.1:c.5204G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002006063GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(Mar 10, 2023) 		germlineclinical testing

Citation Link,

SCV002821986CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Uncertain significance
(Dec 1, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV002006063.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From CeGaT Center for Human Genetics Tuebingen, SCV002821986.12

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

COL5A1: PM2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024